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Article

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

The Journal of clinical endocrinology and metabolism - 1 May 2013

Fernández-Rebollo Eduardo, Lecumberri Beatriz, Gaztambide Sonia, Martinez-Indart Lorea, Perez de Nanclares Guiomar, Castaño Luis

Abstract excerpt

CONTEXT: Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease. OBJECTIVES: The aim of the study was to screen patients with clinical diagnoses of PHP type I or pseudo-PHP...

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Source

Identifiers

PMID: 23533243
DOI: 10.1210/jc.2012-4164

Genes

GNAS

Provenance

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Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.PMID 23533243Read ↗

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